Mutagenetix > Incidental Mutation

Incidental Mutation 'R6004:Tlnrd1'

501968

Institutional Source

Beutler Lab

Gene Symbol

Tlnrd1

Ensembl Gene

ENSMUSG00000070462

Gene Name

talin rod domain containing 1

Synonyms

Mesdc1

MMRRC Submission

044182-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.804) question?

Stock #

R6004 (G1)

Quality Score

69.0074

Status

Validated

Chromosome

Chromosomal Location

83529703-83533549 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83531987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 148 (V148A)

Ref Sequence

ENSEMBL: ENSMUSP00000091769 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094216]

AlphaFold

Q9ERE8

Predicted Effect

probably damaging
Transcript: ENSMUST00000094216
AA Change: V148A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000091769
Gene: ENSMUSG00000070462
AA Change: V148A

Domain	Start	End	E-Value	Type
low complexity region	9	29	N/A	INTRINSIC
PDB:2X0C\|A	37	320	1e-21	PDB
Blast:MA	100	258	1e-5	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138803

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207920

Meta Mutation Damage Score

0.5521

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 96.8%
20x: 89.1%

Validation Efficiency

98% (55/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is regulated by micro RNA MiR-574-3, and is thought to have an oncogenic function in human bladder cancer. A similar gene in mouse is located in a chromosomal region critical for differentiation of mesoderm, which affects embryo patterning and the formation of heart, muscle, blood, skeleton and the urogenital system. The mouse gene is expressed in early development, and in the adult. [provided by RefSeq, Nov 2016]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	C	T	3: 97,082,997 (GRCm39)	A336V	probably benign	Het
Adam5	T	A	8: 25,271,685 (GRCm39)	Y574F	probably benign	Het
Arl6	A	T	16: 59,444,257 (GRCm39)	W80R	probably damaging	Het
Bmal1	A	T	7: 112,879,934 (GRCm39)	D22V	probably damaging	Het
Cars2	A	G	8: 11,597,743 (GRCm39)	I111T	probably damaging	Het
Chrd	T	C	16: 20,553,987 (GRCm39)	L317S	possibly damaging	Het
Cyp4a12b	A	G	4: 115,290,664 (GRCm39)	D262G	probably benign	Het
Dcaf6	A	G	1: 165,216,254 (GRCm39)	S450P	probably benign	Het
Dnah3	T	C	7: 119,685,520 (GRCm39)	D164G	probably benign	Het
Gpx6	A	C	13: 21,503,239 (GRCm39)	T218P	probably benign	Het
Htr1f	T	C	16: 64,746,239 (GRCm39)	N351S	probably damaging	Het
Idua	A	G	5: 108,828,510 (GRCm39)	E241G	probably benign	Het
Ighv14-2	T	A	12: 113,958,255 (GRCm39)	Q62L	probably damaging	Het
Ighv1-65	C	T	12: 115,496,056 (GRCm39)		noncoding transcript	Het
Inpp4a	T	C	1: 37,411,451 (GRCm39)	S372P	probably damaging	Het
Itgax	A	T	7: 127,730,624 (GRCm39)	H114L	probably damaging	Het
Lama2	A	T	10: 27,111,781 (GRCm39)	F746L	probably benign	Het
Lrrc37a	C	T	11: 103,393,362 (GRCm39)	V688M	possibly damaging	Het
Ltbp2	A	G	12: 84,922,923 (GRCm39)	V28A	probably benign	Het
Mill2	A	T	7: 18,590,463 (GRCm39)	D166V	probably benign	Het
Mroh2a	G	A	1: 88,176,377 (GRCm39)	C982Y	probably damaging	Het
Msh3	T	A	13: 92,478,922 (GRCm39)		probably null	Het
Myh15	A	T	16: 48,980,062 (GRCm39)	M1395L	probably benign	Het
Npepps	T	C	11: 97,113,950 (GRCm39)	E642G	probably benign	Het
Nrg4	T	C	9: 55,166,667 (GRCm39)	T68A	possibly damaging	Het
Or10ag60	T	A	2: 87,438,253 (GRCm39)	F174I	probably damaging	Het
Or4b1d	T	C	2: 89,969,343 (GRCm39)	N47D	probably benign	Het
Or4f60	G	T	2: 111,902,371 (GRCm39)	L186I	probably damaging	Het
Or6c66b	T	A	10: 129,376,759 (GRCm39)	Y118N	probably benign	Het
Or8b41	A	G	9: 38,055,256 (GRCm39)	K270R	probably damaging	Het
Or9g20	A	T	2: 85,629,726 (GRCm39)	V296E	probably damaging	Het
Otogl	T	A	10: 107,715,390 (GRCm39)	I429F	probably damaging	Het
Pank4	G	T	4: 155,061,678 (GRCm39)	G532C	probably damaging	Het
Plce1	A	G	19: 38,710,315 (GRCm39)	T1150A	probably damaging	Het
Ppp2r2b	T	C	18: 43,192,224 (GRCm39)		probably null	Het
Prkrip1	A	G	5: 136,226,636 (GRCm39)	M68T	probably damaging	Het
Psme4	T	A	11: 30,806,896 (GRCm39)		probably benign	Het
Raet1d	T	A	10: 22,247,293 (GRCm39)	I123N	probably damaging	Het
Rp1	T	G	1: 4,267,808 (GRCm39)	T825P	unknown	Het
Rttn	T	C	18: 89,039,816 (GRCm39)	I839T	probably damaging	Het
Sgo2b	G	A	8: 64,379,707 (GRCm39)	Q1042*	probably null	Het
Skint11	A	G	4: 114,088,925 (GRCm39)	T240A	probably benign	Het
Speg	A	T	1: 75,392,247 (GRCm39)	K1382*	probably null	Het
Srsf7	A	T	17: 80,513,282 (GRCm39)	D68E	probably damaging	Het
Stag3	A	T	5: 138,287,468 (GRCm39)	D131V	probably damaging	Het
Strip2	T	A	6: 29,926,570 (GRCm39)	C152S	probably damaging	Het
Timm44	G	T	8: 4,317,747 (GRCm39)	D191E	probably benign	Het
Trp63	T	C	16: 25,582,146 (GRCm39)		probably null	Het
Tusc3	G	C	8: 39,538,560 (GRCm39)	G200R	probably damaging	Het
Vmn2r10	T	G	5: 109,146,944 (GRCm39)	N448T	probably benign	Het
Vmn2r50	G	A	7: 9,783,986 (GRCm39)	R163C	probably benign	Het
Vmn2r53	T	C	7: 12,316,328 (GRCm39)	H497R	probably benign	Het
Vps39	A	G	2: 120,176,131 (GRCm39)	V83A	possibly damaging	Het
Ylpm1	A	T	12: 85,075,858 (GRCm39)	N861I	possibly damaging	Het
Zfp712	A	G	13: 67,189,769 (GRCm39)	C253R	probably damaging	Het
Zfp930	A	G	8: 69,680,556 (GRCm39)	T84A	probably benign	Het

Other mutations in Tlnrd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01345:Tlnrd1	APN	7	83,532,054 (GRCm39)	missense	probably damaging	1.00
IGL02662:Tlnrd1	APN	7	83,531,744 (GRCm39)	missense	probably damaging	1.00
IGL02662:Tlnrd1	APN	7	83,532,027 (GRCm39)	missense	possibly damaging	0.94
Danken	UTSW	7	83,531,838 (GRCm39)	missense	probably damaging	0.97
fallt	UTSW	7	83,531,987 (GRCm39)	missense	probably damaging	1.00
R2096:Tlnrd1	UTSW	7	83,532,062 (GRCm39)	missense	probably benign	0.05
R2358:Tlnrd1	UTSW	7	83,531,488 (GRCm39)	missense	probably benign	0.00
R5429:Tlnrd1	UTSW	7	83,531,522 (GRCm39)	missense	probably damaging	1.00
R5910:Tlnrd1	UTSW	7	83,533,693 (GRCm39)	unclassified	probably benign
R6931:Tlnrd1	UTSW	7	83,531,805 (GRCm39)	missense	probably benign	0.15
R7000:Tlnrd1	UTSW	7	83,531,987 (GRCm39)	missense	probably damaging	1.00
R7481:Tlnrd1	UTSW	7	83,531,546 (GRCm39)	missense	probably damaging	1.00
R7587:Tlnrd1	UTSW	7	83,532,155 (GRCm39)	missense	probably damaging	0.98
R7598:Tlnrd1	UTSW	7	83,531,838 (GRCm39)	missense	probably damaging	0.97
R8047:Tlnrd1	UTSW	7	83,532,069 (GRCm39)	missense	probably damaging	0.99
R8776:Tlnrd1	UTSW	7	83,532,316 (GRCm39)	missense	probably benign	0.01
R8776-TAIL:Tlnrd1	UTSW	7	83,532,316 (GRCm39)	missense	probably benign	0.01
R9366:Tlnrd1	UTSW	7	83,531,582 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GAACTGTTCGCGAGAGAAGC -3'
(R):5'- TATCTGTGATCACTGCAAGGGC -3'

Sequencing Primer
(F):5'- AGAAGCGGTCCCGTGACTTG -3'
(R):5'- ACTAAGGGGCTGTCCATCCTC -3'

Posted On

2018-01-31